| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Paroxysmal Dyskinesia v0.61 | UBR4 | Zornitza Stark Marked gene: UBR4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.61 | UBR4 | Zornitza Stark Gene: ubr4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.61 | UBR4 | Zornitza Stark Publications for gene: UBR4 were set to PMID 23982692 PMID 29062094 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.60 | UBR4 | Zornitza Stark Mode of inheritance for gene: UBR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.59 | UBR4 | Zornitza Stark Classified gene: UBR4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.59 | UBR4 | Zornitza Stark Gene: ubr4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.58 | UBR4 | Zornitza Stark changed review comment from: Four unrelated individuals reported with missense variants in this gene and episodic ataxia. However, no segregation or functional data to support gene-disease association, and some of the variants are present at a low frequency in population databases.; to: Four unrelated individuals reported with missense variants in this gene and episodic ataxia. However, no segregation or functional data to support gene-disease association, and some of the variants are present at a low frequency in population databases. Variants in other putative ataxia genes present in some of the individuals. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.58 | UBR4 | Zornitza Stark reviewed gene: UBR4: Rating: RED; Mode of pathogenicity: None; Publications: 23982692, 29062094; Phenotypes: Episodic ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.42 | UBR4 |
Eunice Chan gene: UBR4 was added gene: UBR4 was added to Paroxysmal Dyskinesia. Sources: Expert list Mode of inheritance for gene: UBR4 was set to Unknown Publications for gene: UBR4 were set to PMID 23982692 PMID 29062094 Phenotypes for gene: UBR4 were set to early onset episodic ataxia; nystagmus; myokymia; tremor |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||